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HEPATOLENTICULAR DEGENERATION (WILSON'S DISEASE) IN AN AUSTRALIAN ABORIGINAL
Author(s) -
Gollan J. L.,
Hicks E. P.,
Gordon J. V.
Publication year - 1970
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1970.tb63427.x
Subject(s) - wilson's disease , disease , penicillamine , degeneration (medical) , copper metabolism , medicine , autosomal recessive inheritance , autosomal recessive trait , genetics , pathology , gene , biology , copper , chemistry , organic chemistry
Wilson's disease is an inborn error of copper metabolism inherited as an autosomal recessive trait. The case presented is that of a full‐blood Australian Aboriginal whose neurological manifestations of the disease responded favourably to chelation with d‐penicillamine. Clinical and biochemical screening of 18 relatives of the propositus in the Wave Hill area of the Northern Territory failed to reveal evidence of the disease in other members of the family. This would appear to be the first case of hepatolenticular degeneration reported in this ethnic group and, in the absence of a family history, may represent a mutation of the “normal copper gene” to the abnormal “Wilson's disease gene”.